Canonical Allele Identifier: CA599136435

Gene: HSD17B12

Linked Data

• dbSNP Id: rs1162559080
• gnomAD v2: 11-43728362-TAA-T
• gnomAD v3: 11-43706812-TAA-T
• gnomAD v4: 11-43706812-TAA-T
• MyVariant Identifiers: chr11:g.43728363_43728364del (hg19) ; chr11:g.43706813_43706814del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.43706813_43706814del , CM000673.2:g.43706813_43706814del	GRCh38
NC_000011.9:g.43728363_43728364del , CM000673.1:g.43728363_43728364del	GRCh37
NC_000011.8:g.43684939_43684940del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278353.10:c.160+25826_160+25827del MANE Select	ENSP00000278353.4:n.160+25826_160+25827del
ENST00000527433.6:c.123+26009_123+26010del	ENSP00000490749.1:n.123+26009_123+26010del
ENST00000636007.1:c.160+25826_160+25827del	ENSP00000490822.1:n.160+25826_160+25827del
ENST00000636722.1:c.*20+25630_*20+25631del	ENSP00000490003.1:n.*20+25630_*20+25631del
ENST00000637401.1:c.160+25826_160+25827del	ENSP00000490421.1:n.160+25826_160+25827del
ENST00000638034.1:c.64+25456_64+25457del	ENSP00000490701.1:n.64+25456_64+25457del
ENST00000278353.8:c.160+25826_160+25827del	ENSP00000278353.4:n.160+25826_160+25827del
ENST00000395700.4:c.160+25826_160+25827del	ENSP00000379052.4:n.160+25826_160+25827del
ENST00000527433.5:n.125+26009_125+26010del
ENST00000529261.5:n.377+33674_377+33675del
ENST00000531185.5:c.160+25826_160+25827del	ENSP00000436582.1:n.160+25826_160+25827del
ENST00000532864.5:n.282-44098_282-44097del
NM_016142.2:c.160+25826_160+25827del	NP_057226.1:n.160+25826_160+25827del
XM_011520156.1:c.-63+25630_-63+25631del	XP_011518458.1:n.-63+25630_-63+25631del
XM_017017881.1:c.64+25456_64+25457del	XP_016873370.1:n.64+25456_64+25457del
XM_024448571.1:c.-62-44098_-62-44097del	XP_024304339.1:n.-62-44098_-62-44097del
XM_024448572.1:c.-62-44098_-62-44097del	XP_024304340.1:n.-62-44098_-62-44097del
XM_024448573.1:c.-62-44098_-62-44097del	XP_024304341.1:n.-62-44098_-62-44097del
NM_016142.3:c.160+25826_160+25827del MANE Select	NP_057226.1:n.160+25826_160+25827del